Canonical Allele Identifier: CA357627190

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929457A>T (hg19) ; chr4:g.88008305A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008305A>T , CM000666.2:g.88008305A>T	GRCh38
NC_000004.11:g.88929457A>T , CM000666.1:g.88929457A>T	GRCh37
NC_000004.10:g.89148481A>T	NCBI36
NG_008604.1:g.5638A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.572A>T MANE Select	ENSP00000237596.2:p.Glu191Val
ENST00000237596.6:c.572A>T	ENSP00000237596.2:p.Glu191Val
ENST00000506727.1:n.74A>T
NM_000297.3:c.572A>T	NP_000288.1:p.Glu191Val
XM_011532028.1:c.572A>T	XP_011530330.1:p.Glu191Val
XR_244632.2:n.667A>T
NR_156488.1:n.659A>T
XM_011532028.2:c.572A>T	XP_011530330.1:p.Glu191Val
NM_000297.4:c.572A>T MANE Select	NP_000288.1:p.Glu191Val
NR_156488.2:n.671A>T